Here Lies Truth

Tag Archives: medical genetics

Had a request for a teaser of my recent review of Nic Rasmussen’s Gene Jockeys from Nature (April 10). If you want the whole thing, log in to Nature or shoot me an email.

In 1969, the molecular biologist Gunther Stent published one of the most spectacularly inaccurate predictions in the history of modern science. In The Coming of the Golden Age: A View of the End of Progress (Natural History Press), he stated his belief that molecular genetics — which had only really been a science for 15 years — had peaked. The “golden age,” he wrote, would be one of modest discovery and waning public interest in science. That year, Jonathan Beckwith isolated the first gene. In 1970, Hamilton Smith found the first site-specific restriction enzyme, which his colleague Daniel Nathans developed into a tool for cutting and pasting DNA. Then, in 1972, Paul Berg spliced a bacterial gene into a virus. With the ability to engineer genes, molecular genetics began in earnest. Never mind the Age of Aquarius; this was the age of recombinant DNA.

In Gene Jockeys, the biologist and science historian Nicolas Rasmussen delicately unravels the tangled fibres of discovery, entrepreneurship and lab life in the first decades of genetic engineering.

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Here is the new ad from 23andMe that will begin airing shortly on cable TV*:

Genomics is going mainstream and the best news is first that it’s real simple and second that it’s all about me.

Let’s take the most obvious first: the “me” meme. Of course this relates to the company name, but the ad takes me to a new level. It makes “you” your DNA. I give them points for a couple of qualifiers — it “helps” make me who I am, one character says. But the overall message is that you are your genes.

It also exploits the meme of egocentrism. Nearly everything today seems to be all about me. Memoirs are the hottest genre of nonfiction. We have a magazine called “Self.” One of the most common themes on commercial websites is to have a “My [company name]” area, which usually just means they have your personal information to use to sell you more stuff. There’s even a “.me” internet domain, which they advertise “is all about you.” Who isn’t curious about himself? I’m the most interesting topic in the world! And 23andMe will tell me about my true inner nature for just $99.

One element of personalized medicine, then, is narcissism. Another, more noble, element is individuality. No one is more committed to his individuality than I am—but I’m also wary of its dark side: selfishness. I am struck by the single reference to future generations (“what I will pass on to my kids”). Again, this is a two-sided coin. In the Progressive era, the literature on genetic medicine emphasized family and community. There isn’t a hint of that here. On the one hand, then, the ad is free of the eugenic message of controlling human evolution. On the other, it’s relentlessly selfish. Most likely, the reason for staying away from issues such as family, community, and responsibility is that it enables them to steer way wide of abortion. This ad is about me, not my kids and not the future. That’s actually a new and rather radical development in genetics.

A persistent theme in popular literature from the 19th century to the 21st, is that hereditary information provides certainty. This despite the fact that one of the signal insights from genomics is how uncertain its results are. Genetic medicine today is all about probabilities, and to make informed decisions based on our genetics we have to understand how probability works. The ad works against this principle, promising certainty where there is only chance. “Now, I know” says one woman. No, you don’t. Now, you have a sense of risk—not certainty. This is a dangerous over-simplification.

Simplified double helix from Watson and Crick’s 1953 paper.

This sense of simplicity is also carried in the graphics. Note how there’s hardly a double helix in it. “Your” DNA is reduced to circles, dots, and lines. They move and whirl entertainingly and there’s just enough suggestion of complexity to carry the message that you can’t understand “you” without them‚ 23andMe. If DNA becomes as central to identity as companies such as 23andMe want to make it, this ad suggests that its iconic image may fade. Even the stripped-down ribbons and bars version is simply too complex for TV.

An early karyogram (of Down syndrome) from the 1960s.

A comprehensive chromosome map from UCSF.

Screen shot from 23andMe commercial. Her “DNA” is those two colorful cylinders by her ear.

Most of the genetic “knowledge” promised is simple enough to be carried in the one- and two-syllable words that dominate mass-market media. Genetic medicine, stuffed as it is with Latinate and Greek words, is a tough sell in that market, but the ad pulls it off. At 0:21 we hear the longest word in the ad: “hemochromatosis.” The speaker pauses after the second syllable, to suggest empathy with viewers who get hung up on such terms. According to the Mayo Clinic website, hemochromatosis is indeed usually inherited, is rarely serious, is most common in men, and is the most common genetic disease in Caucasians. The ad script gives this word to a black man. Thus, one of the ad’s subtle messages is to erase racial differences—even differences supported by scientific evidence. It’s a commonplace in TV ads nowadays to feature men and women of many hues, but the 23andMe ad takes it a step further.

Another theme of the commercial is the way it suggests communities based around biological identities of health and disease. Once, our primary identities were with those who lived near us, or shared our work or hobbies or politics. But politics has become personal, our communities are digital, and our identities center around health. The sociologist Nikolas Rose calls this “biological citizenship.” The 23andMe website features forums where members who share particular mutations or risks can discuss diets, lifestyle habits, child-bearing decisions–or their pets, if they wish. They are communities based around health. The ad sends the message that race, class, and gender are no longer our defining social themes: what matters now is health and disability.

We hear so much about the importance of educating the public about their biology as a key component of contemporary personalized medicine, but in this ad that biology is reduced to bumper-sticker-like phrases about this circle “saying” I will have blue eyes and that line segment “saying” I have a risk of this or that disease. Learning about me will be fun, easy, and inexpensive. Thank goodness I can mail off a C-note, spit in a cup, and in a few weeks get a report that simplifies it all in language I can understand. The ad ends with a rainbow of people chanting “Me. Me. Me.” It’s the “Om” of the 21st century.

*h/t to Bob Resta for sending the link to the ad, and to Shirley Wu (@shwu) for a tweet that showed me that the hemochromatosis passage was too terse in yesterday’s version. I’d been wanting to add something about biological citizenship and Shirley’s comment suggested a way to do it.

A recent post by Jon Entine on the Forbes website leads with a complimentary citation of my book– and then goes on to undermine its central thesis. He concludes:

Modern eugenic aspirations are not about the draconian top-down measures promoted by the Nazis and their ilk. Instead of being driven by a desire to “improve” the species, new eugenics is driven by our personal desire to be as healthy, intelligent and fit as possible—and for the opportunity of our children to be so as well. And that’s not something that should be dismissed lightly.

Well, first of all, as the recent revelations of coerced sterilization of prisoners in California shows, “draconian, top-down” measures do still occur. Genetics and reproduction are intensely potent, and wherever we find abuse of power we should be alert to the harnessing of biology in the service of tyranny.

Second, there’s more than one kind of tyranny. Besides the tyranny of an absolute ruler, perhaps the two most potent and relevant here are the tyranny of the commons and the tyranny of the marketplace. The fact that they are more subtle makes them in some ways more dangerous. The healthcare industry does much good in the world, but it is naive to treat it as wholly benign.

Further, putting human evolution in the hands of humans, means accepting long-term consequences for short-term goals. The traits we value–health, intelligence, beauty–are the result of the action of many genes interacting with each other and with a dynamic environment. The entire system is contingent, inherently unpredictable. Yet we treat it as simple and deterministic. Until now, technology has been the major obstacle to guiding human evolution. It may be that now the major obstacle is our reasoning ability, our capacity for grasping contingency and probability and change. We’re tinkering with the machinery of a system whose complexity is still unfolding before us. The probability of unforeseen consequences is 100%. The only question is how severe they will be. We will only know in retrospect.

If we now have the tools to meaningfully guide our own evolution–as eugenicists have always wanted to do–we cannot take a blithe and Panglossian attitude. We have to be alert to the risks and take them seriously. That is not traditionally science’s strong suit. The public face of science is sunny, optimistic, fun. It strides boldly into the future, laughing and making striking promises. The industries behind science and health are wealthy and politically powerful. Not everything they do is benign.

To be a critic of that public-relations machine–of hype, in other words–is not to be a critic of health or knowledge or progress. Genetic science has the potential to bring us enormous benefits in health and well-being, and as they do, I stand in line with my fellow humans for my fair share. But that science also carries huge and unforeseeable risks, the root of which, perhaps, is arrogance. It’s one whose consequences are painfully evident in the historical record.

Official release date for SoHP is 9/25; I have hardcover in my hot little hands already. Yay!
Working on a piece for the Chronicle of Higher Education, and now HuffPost wants an essay of 800-1000 words.

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I’ve started a new page–it will stay in the header bar above–for my forthcoming book, The Science of Human Perfection: How Genes Became the Heart of American Medicine, due this summer from Yale University Press. The book is a history of the promises of genetic medicine, from the late 19th through the late 20th centuries. It shows how genetics went from being a backwater of agricultural science to the core of biomedicine. Eugenics, I find, was not a hindrance to genetics going medical, but the vehicle by which it went medical.

I’ve posted a link to the Preface, and will post news about it there as it comes in. Enjoy!

My satirical post last week about scientists finding a gene for love of the sea was intended to make a point about how we view genomics today—and a historical point about how we smugly congratulate ourselves on being so much more sophisticated than early human geneticists and eugenicists. Most people got that it was a spoof, but I thought it would be worthwhile to discuss some of the deeper issues at stake.

Charles Davenport was a real scientist, and the quotes from him are real. Davenport was a geneticist in the first half of the 20th century and the leader of the American Eugenics movement during the Progressive Era. He is often demonized as wrong-headed, misguided, and simple-minded. Indeed, he could be all of these things. Davenport really did believe there was a recessive, male-linked trait for the love of the sea. Thalassophilia has become a classic example of how eugenicists could ignore obvious environmental explanations in favor of the hereditary. When I told my 11-year-old daughter about Davenport’s thalassophilia, she immediately saw the fallacy: the sons of ship captains learn their love of the sea, they don’t inherit it.

My larger point is that simplistic analyses like Davenport’s can be masked by numbers and fancy technology.

For years, medical genetics involved the search for genes underlying genetic disease. Diseases that were caused by a defective gene, and not, say, by a germ or some other environmental factor. But that distinction has been erased. We used to think of genetic traits and non-genetic traits. Now, non-genetic traits are called “complex”—i.e., partly genetic and partly environmental. In other words, all diseases, and indeed all traits are understood as partially genetic.

There are sound reasons for thinking this way. I’m not arguing that those genes don’t exist. I don’t question the data—I’m happy to believe that there really is a genetic association with all of these traits. Indeed, I think it’s becoming possible to find a real, verifiable genetic basis for almost anything you like.

The advent of genome-wide association studies (GWAS) has made it vastly easier to examine traits with smaller and smaller genetic contributions. In essence, you can pick your trait, sample the DNA of a large group of people, and scan their genomes for bits of shared sequence.

As a consequence, we have the recent bloom of studies describing the genetic component of all sorts of “complex” traits, from religiosity to getting drunk and beating people up. We’re only limited by our imaginations, and by the kinds of traits we’re interested in today.

Thinking about these recent studies, it occurred to me that these traits were not fundamentally different from Davenport’s old favorite, thalassophilia. I bet, I said to myself, that if sailing were as culturally important today as it was in 1919, people would be doing GWAS to find the genetic basis of sea-lust. And I bet they’d find it.

Of course, there are big differences between human genetics in 2011 and human genetics in 1919. Davenport advocated sterilization laws and immigration laws to manage and shrink what he saw as the swelling populations of the “unfit.” That would be inconceivable today. I don’t think we’re returning to a “new eugenics” in any meaningful sense.

But cutting across the cultural differences are some continuities. One of them is the desire to believe there is a simple genetic explanation for our tastes and talents. That I think is a dangerous view. So on the one hand, I think we should be careful to evaluate 1920s science by the standards of the day, rather than by those of the 21st century. And on the other, we must not delude ourselves that modern science is completely objective. Mechanistic explanations are not proof against cultural bias.

My spoof was intended as a word of caution, a way to inject a note of skepticism about genetic explanations of human nature. C.M (“Call Me) Ishmael, the journal Genetic Determinism Today, MysticGene, the 4C (“for sea”) variant, the salt-stained polo shirts and the sailing widows—all that was pure balderdash. As the motto of this site goes, “Here lies truth”— in roughly equal measure.

So, keep your heads up, folks—and watch for the keyword “Satire” in the Categories section of this blog. Thanks for reading.